2. Gene
  3. LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 Gene

LARGE2 - LARGE xylosyl- and glucuronyltransferase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PP5656; GYLTL1B

Gene ID: 120071 | Gene type: protein coding

About LARGE2

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,921,621-45,929,096 (from NCBI)

This gene has 10 transcripts (splice variants), 220 orthologues and 5 paralogues. Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues.

Summary

Predicted to enable dystroglycan binding activity; glucuronosyltransferase activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

LARGE2 Products(3)

mRNA Protein Name
NM_001300721.2 NP_001287650.1 xylosyl- and glucuronyltransferase LARGE2 isoform a precursor
NM_001300722.2 NP_001287651.1 xylosyl- and glucuronyltransferase LARGE2 isoform b
NM_152312.5 NP_689525.3 xylosyl- and glucuronyltransferase LARGE2 isoform a precursor
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19587235 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein O-linked mannosylation IDA
IDA: Inferred from direct assay
25138275 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LARGE2 Protein Structure

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (110 - 345)

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (431 - 495)

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (498 - 676)

  • 0
  • 200
  • 400
  • 600
  • 721 a.a.
Protein Preferred Names Protein Names

xylosyl- and glucuronyltransferase LARGE2

glycosyltransferase-like 1B

Related Diseases

Diseases Alias
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6

MDDGB6

Mdc1d

Muscular Dystrophy, Congenital, Type 1d

Congenital Muscular Dystrophy Type 1d

Dystrophy, Muscular, Dystroglycanopathy , Type B6

Muscular Dystrophy, Congenital, Large-Related

Congenital Muscular Dystrophy Large-Related

Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6

Muscular Dystrophy Large-Related
Brazilian Hemorrhagic Fever

Sabia Hemorrhagic Fever
Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n

Lgmd2n

MDDGC2

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14

Lgmdr14

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related

Limb-Girdle Muscular Dystrophy Type 2n

Muscular Dystrophy, Limb-Girdle, Type 2n

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related

Muscular Dystrophy-Dystroglycanopathy Type C 2

Pomt2-Related Limb-Girdle Muscular Dystrophy R14

Lgmd Type 2n

Pomt2-Related Lgmd R14

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2

Mdgd2c

Dystrophy, Muscular, Limb-Girdle, Type 2n
Septic Myocarditis
Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Due To Lmna Mutation

MDCL

L-Cmd

Lmna-Related Congenital Muscular Dystrophy

Muscular Dystrophy, Congenital

Congenital Muscular Dystrophy Lmna-Related

Lmna-Related Cmd

Cmd

Mdc

Muscular Dystrophy Congenital Lmna-Related

Dystrophy, Muscular, Congenital, Lmna-Related

Dystrophy, Muscular, Congenital

Hereditary Muscular Dystrophy

Congenital Hereditary Muscular Dystrophy

Congenital Progressive Muscular Dystrophy

Hereditary Progressive Muscular Dystrophy
Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy

Fcmd

MDDGA4

Fukuyama Type Congenital Muscular Dystrophy

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

Cerebromuscular Dystrophy, Fukuyama Type

Fukuyama Cmd

Fukuyama Muscular Dystrophy

Fukuyama Syndrome

Muscular Dystrophy, Congenital Progressive, With Mental Retardation

Muscular Dystrophy, Congenital, Fukuyama Type

Muscular Dystrophy, Congenital, With Central Nervous System Involvement

Polymicrogyria With Muscular Dystrophy

Congenital Muscular Dystrophy, Fukuyama Type

Fktn-Related Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

Cerebromuscular Dystrophy Fukuyama Type

Congenital Muscular Dystrophy Fukuyama Type

Micropolygyria With Muscular Dystrophy

Muscle-Eye-Brain Disease Fktn-Related

Walker-Warburg Syndrome Fktn-Related
Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

Mddga

Klissencephaly Type 2 With Muscular And Ocular Involvement

Lissencephaly Type 2 With Muscular And Ocular Involvement
Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07525 LARGE2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus LARGE2 VGNC VGNC:63191
Bos taurus LARGE2 VGNC VGNC:30789
Canis familiaris LARGE2 VGNC VGNC:42586
Macaca mulatta LARGE2 VGNC VGNC:74060
Rattus norvegicus LARGE2 RGD RGD:735214
Mus musculus LARGE2 MGD MGI:2443769